Publications:

Vitamin C boosts DNA demethylation in TET2 germline mutation carriers.

Clinical Epigenetics

Taira, Aurora A; Palin, Kimmo K; Kuosmanen, Anna A; Välimäki, Niko N; Kuittinen, Outi O; Kuismin, Outi O; Kaasinen, Eevi E; Rajamäki, Kristiina K; Aaltonen, Lauri A LA

Publication Date: 2023-01-14

Variant appearance in text: TET2: 4500delA

PubMed Link: 36639817

Variant Present in the following documents:

• Main text
• 13148_2022_Article_1404.pdf
• 13148_2022_1404_MOESM1_ESM.pdf

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Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension.

Circulation

Potus, François F; Pauciulo, Michael W MW; Cook, Elina K EK; Zhu, Na N; Hsieh, Alexander A; Welch, Carrie L CL; Shen, Yufeng Y; Tian, Lian L; Lima, Patricia P; Mewburn, Jeffrey J; D'Arsigny, Christine L CL; Lutz, Katie A KA; Coleman, Anna W AW; Damico, Rachel R; Snetsinger, Brooke B; Martin, Ashley Y AY; Hassoun, Paul M PM; Nichols, William C WC; Chung, Wendy K WK; Rauh, Michael J MJ; Archer, Stephen L SL

Publication Date: 2020-06-16

Variant appearance in text: TET2: 4500delA

PubMed Link: 32192357

Variant Present in the following documents:

• Main text

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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Nature Communications

Kaasinen, Eevi E; Kuismin, Outi O; Rajamäki, Kristiina K; Ristolainen, Heikki H; Aavikko, Mervi M; Kondelin, Johanna J; Saarinen, Silva S; Berta, Davide G DG; Katainen, Riku R; Hirvonen, Elina A M EAM; Karhu, Auli A; Taira, Aurora A; Tanskanen, Tomas T; Alkodsi, Amjad A; Taipale, Minna M; Morgunova, Ekaterina E; Franssila, Kaarle K; Lehtonen, Rainer R; Mäkinen, Markus M; Aittomäki, Kristiina K; Palotie, Aarno A; Kurki, Mitja I MI; Pietiläinen, Olli O; Hilpert, Morgane M; Saarentaus, Elmo E; Niinimäki, Jaakko J; Junttila, Juhani J; Kaikkonen, Kari K; Vahteristo, Pia P; Skoda, Radek C RC; Seppänen, Mikko R J MRJ; Eklund, Kari K KK; Taipale, Jussi J; Kilpivaara, Outi O; Aaltonen, Lauri A LA

Publication Date: 2019-03-19

Variant appearance in text: TET2: 4500delA

PubMed Link: 30890702

Variant Present in the following documents:

• Main text
• 41467_2019_9198_MOESM1_ESM.pdf
• 41467_2019_Article_9198.pdf

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TET2: 4500delA; Lys1500fs

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s5.xlsx, sheet 6
• bty518_supplementary_data_s10.xlsx, sheet 8

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